Mutagenetix > Incidental Mutation

Incidental Mutation 'R1271:Acadvl'

151317

Institutional Source

Beutler Lab

Gene Symbol

Acadvl

Ensembl Gene

ENSMUSG00000018574

Gene Name

acyl-Coenzyme A dehydrogenase, very long chain

Synonyms

VLCAD

MMRRC Submission

039337-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.532) question?

Stock #

R1271 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

69901009-69906237 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 69905526 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 71 (S71P)

Ref Sequence

ENSEMBL: ENSMUSP00000099634 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018718] [ENSMUST00000019362] [ENSMUST00000102574] [ENSMUST00000102575] [ENSMUST00000108588] [ENSMUST00000123687] [ENSMUST00000231415] [ENSMUST00000133140] [ENSMUST00000134376] [ENSMUST00000231221] [ENSMUST00000232002] [ENSMUST00000190940] [ENSMUST00000108589] [ENSMUST00000231506]

AlphaFold

P50544

Predicted Effect

probably damaging
Transcript: ENSMUST00000018718
AA Change: S49P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000018718
Gene: ENSMUSG00000018574
AA Change: S49P

Domain	Start	End	E-Value	Type
Pfam:Acyl-CoA_dh_N	74	188	4.4e-22	PFAM
Pfam:Acyl-CoA_dh_M	192	245	5.1e-20	PFAM
Pfam:Acyl-CoA_dh_1	306	455	6.7e-41	PFAM
Pfam:Acyl-CoA_dh_2	321	445	2.8e-12	PFAM
Blast:HisKA	460	557	6e-10	BLAST
low complexity region	558	569	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000019362

SMART Domains

Protein: ENSMUSP00000019362
Gene: ENSMUSG00000020888

Domain	Start	End	E-Value	Type
DAX	11	93	2.31e-56	SMART
Pfam:Dishevelled	103	263	1.5e-60	PFAM
PDZ	276	355	1.65e-15	SMART
low complexity region	395	407	N/A	INTRINSIC
DEP	433	507	6.6e-29	SMART
Pfam:Dsh_C	515	726	1.1e-75	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083600

Predicted Effect

probably damaging
Transcript: ENSMUST00000102574
AA Change: S71P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000099634
Gene: ENSMUSG00000018574
AA Change: S71P

Domain	Start	End	E-Value	Type
Pfam:Acyl-CoA_dh_N	96	210	2.5e-25	PFAM
Pfam:Acyl-CoA_dh_M	214	316	5.5e-25	PFAM
Pfam:Acyl-CoA_dh_1	328	477	2.5e-41	PFAM
Pfam:Acyl-CoA_dh_2	343	467	8.7e-14	PFAM
Blast:HisKA	482	579	7e-10	BLAST
low complexity region	580	591	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000102575

SMART Domains

Protein: ENSMUSP00000099635
Gene: ENSMUSG00000020888

Domain	Start	End	E-Value	Type
DAX	11	93	2.31e-56	SMART
low complexity region	112	122	N/A	INTRINSIC
Pfam:Dishevelled	160	232	8.1e-27	PFAM
low complexity region	250	262	N/A	INTRINSIC
PDZ	276	355	1.65e-15	SMART
low complexity region	395	407	N/A	INTRINSIC
DEP	433	507	6.6e-29	SMART
Pfam:Dsh_C	515	726	1.3e-79	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000108586

Predicted Effect

probably benign
Transcript: ENSMUST00000108588

SMART Domains

Protein: ENSMUSP00000104229
Gene: ENSMUSG00000020886

Domain	Start	End	E-Value	Type
MAGUK_N_PEST	10	61	1e-7	SMART
PDZ	70	149	3.38e-21	SMART
PDZ	165	244	1.12e-21	SMART
PDZ	318	391	4.13e-25	SMART
SH3	428	494	1.68e-9	SMART
GuKc	530	709	3.65e-68	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137187

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146129

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156733

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145478

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134516

Predicted Effect

probably benign
Transcript: ENSMUST00000123687

SMART Domains

Protein: ENSMUSP00000134545
Gene: ENSMUSG00000020886

Domain	Start	End	E-Value	Type
SH3	11	77	1.68e-9	SMART
GuKc	113	205	7.37e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000231415

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133140

SMART Domains

Protein: ENSMUSP00000126707
Gene: ENSMUSG00000020886

Domain	Start	End	E-Value	Type
PDZ	13	92	3.38e-21	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000134376

SMART Domains

Protein: ENSMUSP00000115206
Gene: ENSMUSG00000020886

Domain	Start	End	E-Value	Type
MAGUK_N_PEST	10	97	3.39e-37	SMART
PDZ	106	165	1.79e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000231221

Predicted Effect

probably benign
Transcript: ENSMUST00000232002

Predicted Effect

probably benign
Transcript: ENSMUST00000190940

SMART Domains

Protein: ENSMUSP00000140073
Gene: ENSMUSG00000020888

Domain	Start	End	E-Value	Type
DAX	11	93	2.31e-56	SMART
low complexity region	112	122	N/A	INTRINSIC
Pfam:Dishevelled	160	232	8.1e-27	PFAM
low complexity region	250	262	N/A	INTRINSIC
PDZ	276	355	1.65e-15	SMART
low complexity region	395	407	N/A	INTRINSIC
DEP	433	507	6.6e-29	SMART
Pfam:Dsh_C	515	726	1.3e-79	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108589

SMART Domains

Protein: ENSMUSP00000104230
Gene: ENSMUSG00000020886

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
MAGUK_N_PEST	53	107	1.36e-4	SMART
PDZ	116	195	3.38e-21	SMART
PDZ	211	290	1.12e-21	SMART
PDZ	364	437	4.13e-25	SMART
SH3	474	540	1.68e-9	SMART
GuKc	576	755	3.65e-68	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000231506

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.3%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a homodimeric mitochondrial flavoprotein and is a member of the acyl-CoA dehydrogenase family. Members of this family catalyze the first step of fatty acid beta-oxidation, forming a C2-C3 trans-double bond in a FAD-dependent reaction. As beta-oxidation cycles through its four steps, each member of the acyl-CoA dehydrogenase family works at an optimum fatty acid chain-length. This enzyme has its optimum length between C16- and C20-acylCoA and localizes to the inner mitochondrial membrane (unlike related acyl-CoA dehydrogenases). In mice, deficiency of this gene can cause ventricular arrhythmias as well as fasting and cold intolerance. [provided by RefSeq, Nov 2012]
PHENOTYPE: Homozygous mutant animals exhibit mild steatosis, lipid accumulation in myocytes, increased fatigue, impaired temperature regulation, increased susceptibility to arrhythmia, accumulation of long-chain acylcarnitines, and lower free carnitine levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019D03Rik	A	T	1: 52,964,493 (GRCm39)	D78E	possibly damaging	Het
4930447C04Rik	A	T	12: 72,939,657 (GRCm39)	F419I	possibly damaging	Het
Abca14	T	C	7: 119,924,340 (GRCm39)	V1664A	probably damaging	Het
Adcy2	A	T	13: 68,790,617 (GRCm39)	C916S	probably damaging	Het
Atad2	T	C	15: 57,989,985 (GRCm39)	T164A	probably benign	Het
Ccdc18	A	T	5: 108,349,982 (GRCm39)	K1045*	probably null	Het
Cemip2	T	A	19: 21,801,268 (GRCm39)	I795N	possibly damaging	Het
Cfap43	C	T	19: 47,728,183 (GRCm39)	E1525K	probably benign	Het
Cfap43	G	T	19: 47,736,387 (GRCm39)	S1368Y	probably damaging	Het
Csmd3	T	A	15: 47,874,455 (GRCm39)	I610L	probably benign	Het
Des	A	T	1: 75,337,290 (GRCm39)	T77S	probably benign	Het
Fnip1	T	C	11: 54,394,123 (GRCm39)	V853A	probably benign	Het
Gabrg1	T	A	5: 70,934,487 (GRCm39)	D292V	probably damaging	Het
Gcm1	A	G	9: 77,966,859 (GRCm39)	N26S	probably benign	Het
Gpsm1	G	T	2: 26,234,684 (GRCm39)	R507L	probably damaging	Het
H2-M1	T	A	17: 36,982,137 (GRCm39)	T155S	probably benign	Het
Hapln3	T	C	7: 78,767,764 (GRCm39)	D210G	probably damaging	Het
Magel2	T	C	7: 62,030,762 (GRCm39)	L1222P	unknown	Het
Mphosph10	A	T	7: 64,039,832 (GRCm39)		probably null	Het
Mup6	A	T	4: 60,003,579 (GRCm39)		probably benign	Het
Nsmce1	T	A	7: 125,070,426 (GRCm39)	E128D	probably damaging	Het
Or4c11	T	A	2: 88,695,475 (GRCm39)	Y175*	probably null	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Shf	G	A	2: 122,199,163 (GRCm39)	P51S	probably damaging	Het
Sorbs2	T	A	8: 46,249,004 (GRCm39)	S733T	probably damaging	Het
Stxbp5	A	T	10: 9,692,013 (GRCm39)	I377K	probably damaging	Het
Tnfsf4	T	A	1: 161,223,274 (GRCm39)	L41Q	probably damaging	Het
Tut7	A	C	13: 59,969,669 (GRCm39)	N75K	probably damaging	Het
Usp28	G	A	9: 48,947,261 (GRCm39)		probably null	Het

Other mutations in Acadvl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03391:Acadvl	APN	11	69,901,542 (GRCm39)	missense	probably damaging	0.99
IGL03396:Acadvl	APN	11	69,902,239 (GRCm39)	nonsense	probably null
R1122:Acadvl	UTSW	11	69,902,203 (GRCm39)	missense	probably damaging	1.00
R1435:Acadvl	UTSW	11	69,905,642 (GRCm39)	missense	probably benign	0.00
R1519:Acadvl	UTSW	11	69,905,617 (GRCm39)	critical splice donor site	probably null
R1710:Acadvl	UTSW	11	69,901,181 (GRCm39)	missense	probably damaging	1.00
R1853:Acadvl	UTSW	11	69,901,696 (GRCm39)	missense	probably damaging	1.00
R4747:Acadvl	UTSW	11	69,903,334 (GRCm39)	missense	probably damaging	1.00
R4822:Acadvl	UTSW	11	69,902,010 (GRCm39)	missense	probably benign	0.01
R5700:Acadvl	UTSW	11	69,904,029 (GRCm39)	missense	probably damaging	0.99
R6312:Acadvl	UTSW	11	69,902,593 (GRCm39)	missense	probably damaging	0.99
R6482:Acadvl	UTSW	11	69,902,388 (GRCm39)	missense	probably benign	0.00
R6489:Acadvl	UTSW	11	69,901,145 (GRCm39)	missense	probably benign	0.00
R6904:Acadvl	UTSW	11	69,905,159 (GRCm39)	missense	probably benign	0.31
R7009:Acadvl	UTSW	11	69,905,617 (GRCm39)	critical splice donor site	probably null
R7623:Acadvl	UTSW	11	69,901,569 (GRCm39)	missense	probably damaging	1.00
R8103:Acadvl	UTSW	11	69,905,168 (GRCm39)	missense	probably benign	0.00
R8439:Acadvl	UTSW	11	69,902,554 (GRCm39)	nonsense	probably null
R8556:Acadvl	UTSW	11	69,904,376 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CACCAGCTCTTTGAGAAATTGTGCC -3'
(R):5'- GCGCTTCCTGCACACCTTTTAAGAC -3'

Sequencing Primer
(F):5'- GAGAAATTGTGCCTGTTCTTCAC -3'
(R):5'- TGCACACCTTTTAAGACCCATC -3'

Posted On

2014-01-29